| Author | Baldo, Guilherme | |
| Author | Matte, Ursula | |
| Author | Artigalas, Osvaldo | |
| Author | Schwartz, Ida Vanessa | |
| Author | Burin, Maira Graeff | |
| Author | Ribeiro, Erlane | |
| Author | Horovitz, Dafne Dain Gandelman | |
| Author | Magalhaes, Tatiana Pacheco | |
| Author | Elleder, Milan | |
| Author | Giugliani, Roberto | |
| Access date | 2014-12-17T13:20:39Z | |
| Available date | 2014-12-17T13:20:39Z | |
| Document date | 2011 | |
| Citation | BALDO, Guilherme. et al. Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI. Molecular Genetics and Metabolism, Orlando, v. 103, p. 197-198, 2011. | pt_BR |
| ISSN | 1096-7192 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/9195 | |
| Language | eng | pt_BR |
| Publisher | Academic Press | pt_BR |
| Rights | restricted access | |
| Title | Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI | pt_BR |
| Type | Article | |
| DOI | 10.1016/j.ymgme.2011.03.002 | |
| Abstract | We analyzed placental tissue in one fetus with MPS II (iduronate sulphatase deficiency) and another with MPS
VI (arylsulfatase B deficiency). Both were diagnosed prenatally, but families decided to continue pregnancies
and placentas were collected at birth. We were able to demonstrate early storage of GAGs in both diseases by
GAG measurement and microscopy analysis. Our results suggest that some alterations related to MPS storage,
although not pronounced, may be observed in placental tissue of patients affected by MPS II and MPS VI. | pt_BR |
| Affilliation | Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Biológicas: Bioquímica. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clinicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clinicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital Geral Cesar Cals. Fortaleza, CE, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Institute of Inherited Metabolic Disorders. Prague, Czech Republic. | pt_BR |
| Affilliation | Hospital de Clínicas. Centro de Terapia Genética. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Biológicas: Bioquímica. Porto Alegre, RS, Brasil / Hospital de Clinicas. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil. | pt_BR |
| Subject | Mucopolysaccharidoses | pt_BR |
| Subject | Hunter Syndrome | pt_BR |
| Subject | Maroteaux–Lamy Syndrome | pt_BR |
| Subject | Prenatal Diagnosis | pt_BR |
| Subject | Glycosaminoglycans | pt_BR |
| Subject | Lysosomal Storage Diseases | pt_BR |
| DeCS | Mucopolissacaridoses | pt_BR |
| DeCS | Mucopolissacaridose II | pt_BR |
| DeCS | Mucopolissacaridose VI | pt_BR |
| DeCS | Diagnóstico Pré-Natal | pt_BR |
| DeCS | Glicosaminoglicanas | pt_BR |
| DeCS | Doenças por Armazenamento dos Lisossomos | pt_BR |
